POLG Pathogenicity Prediction Server

1 patient data entry collated from reference Naess et al, 2009.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

286

W748S5

R852C1
G11D

Developmental retardation, Hypotonia, ataxia, seizures myoclonus, abnormal eye movement, gastrointestinal problems, hepatic involvement

-	myoclonic seizures

-	movement disorder (ataxia)

hypotonic

-	retardation

-	GI problems

infantile

n/a

0.3

1.1

^1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Search criteria for patient entries:

Mutations Entry IDs Clusters Reference Residue range

Reference:

References in full format are accessible through the references page.

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